8A03.10 Friedreich ataxia
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Friedreich ataxia is an autosomal recessive ataxia characterised by difficulties to coordinate movements, associated with neurological signs (dysarthria, loss of reflexes, decrease of deep sensation, pes cavus and scoliosis), cardiomyopathy and sometimes diabetes mellitus. It is due to a mutation in the frataxin gene.
code elsewhere
synonyms
- Friedreich ataxia
- Friedreich-like ataxia with selective vitamin E deficiency
- Familial isolated vitamin E deficiency
- AVED - [isolated vitamin E deficiency]
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